S46P (p.Ser46Pro) variant of HSD17B3 (P37058)
S46P (p.Ser46Pro) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S46P (p.Ser46Pro) variant details
- p.Ser46Pro
- gnomAD rs1344180452
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.70
- MetaLR 0.69
- MetaSVM 0.37
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available